Monday, July 20, 2009
Thoughts about Celiac Disease Testing
Our older sister sent us an email earlier today discussing an email that was sent to her about getting the celiac disease genetic testing. She asked for our thoughts about this. So here we go... we have heard of the testing but have never really thought about getting it done. At least where we are in our lives we do not feel it is necessary. Though, we feel that one day in the future we will get the test done. For those of you who have kids or plan to you may want to think about getting this test done. There are different DNA test for the genes available that predispose to celiac disease. Options are either blood sample, saliva, or cells obtained by swabbing inside your cheek. The test will show you whether or not you have the genes that predispose to the disorder. If you have the DQ8 or DQ2 doesn't mean you have the disease - it means that you COULD develop a sensitivity to gluten. So makes you a high risk.
According to University of Chicago Celiac Disease center - said if you are a first degree relative (parent, child, sister/brother) of a person with celiac, you have a 1 in 22 chance of developing the disease in your life. If you are a second degree relative (aunt, uncle, etc) your risk is 1 in 39. First and second degree relatives who have the genetic testing and find out that they have the genes can be checked regularly to help monitor the disease which helps with the early diagnosis. By finding out your diagnosis early can help reduce the risk of complications that come with the disease.
Where to get tested:
Genetic testing is available through most doctors. There are also take-home cheek swab kits as well. More insurance companies are covering the cost of the test, especially those who are at a high risk.
You want the test to do both the alpha and beta subunits of HLA DQ. Though, Enterolab just does the Beta testing. So if you just curious and don't think you are a high risk, this test should be ok. Though, if you really want a more complete test than Kimball Genetics, LabCorp, and Prometheus Labs all do the testing. I feel that everyone would benefit in getting tested at some point in their life and depending on your family's background or where you are in your life. You may want to consider getting tested. I hope this information is helpful and helps you in your decision on whether or not to get tested.
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2 comments:
Hey guys - just to add my 2 cents - genetic testing is not the gold standard for CD diagnosis, just a way to rule out the possibility of one getting CD.
To get a proper diagnosis one should follow a 3 step process. First - get an antibody blood test (test for Endomysial IgA Antibodies & Tissue transglutaminase (tTG) IgA Antibodies). If the results are positive for this blood test, get an endoscopy with biopsy of the small intestine. Lastly, if this is positive and one improves on a Gluten Free diet, then Celiac Disease is the proper diagnosis.
Great topic!
Zach,
Thanks for the more detailed information about more testing. Great stuff! It is a very interesting topic. I feel hopefully one day majority of people will get tested like they do overseas.
Lori
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